A curated catalogue of human genomic structural variation




Variant Details

Variant: essv6986489



Internal ID12629987
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr7:82339438..82831630hg38UCSC Ensembl
Innerchr7:81968754..82460946hg19UCSC Ensembl
Innerchr7:81806690..82298882hg18UCSC Ensembl
Innerchr7:81613405..82105597hg17UCSC Ensembl
Cytoband7q21.11
Allele length
AssemblyAllele length
hg38492193
hg19492193
hg18492193
hg17492193
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv2752186
Supporting Variants
SamplesBEC_678
Known GenesCACNA2D1, PCLO
MethodSNP array
Analysis
PlatformAffymetrix Mapping 250K Sty2 SNP Array
Comments
ReferencePinto_et_al_2007
Pubmed ID17911159
Accession Number(s)essv6986489
Frequency
Sample Size771
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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